Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 Biomarker GENOMICS_ENGLAND Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes. 11829139

2002
Entrez Id: 4758
Gene Symbol: NEU1
NEU1
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		0.720 Biomarker GENOMICS_ENGLAND Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene. 11702224

2001